Previous HGNC Symbols for ADH1B Gene

Previous GeneCards Identifiers for ADH1B Gene

Summaries for ADH1B Gene

Entrez Gene Summary for ADH1B Gene

The protein encoded by this gene is a member of the alcohol dehydrogenase family. Members of this enzyme family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. This encoded protein, consisting of several homo- and heterodimers of alpha, beta, and gamma subunits, exhibits high activity for ethanol oxidation and plays a major role in ethanol catabolism. Three genes encoding alpha, beta and gamma subunits are tandemly organized in a genomic segment as a gene cluster. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]

GeneCards Summary for ADH1B Gene

ADH1B (Alcohol Dehydrogenase 1B (Class I), Beta Polypeptide) is a Protein Coding gene.
Diseases associated with ADH1B include alcohol dependence and alcohol-related birth defect.
Among its related pathways are Metabolism and Metabolism.
GO annotations related to this gene include alcohol dehydrogenase activity, zinc-dependent.
An important paralog of this gene is ADH6.

Variants for ADH1B Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for ADH1B Gene

Three alleles are known: ADH1B*1 (ADH2*1) corresponding to variant beta-1, ADH1B*2 (ADH2*2) corresponding to variant beta-2, ADH1B*3 (ADH2*3) corresponding to variant beta-3. The sequence shown is that of allele ADH1B*1. The ADH1B*2 allele frequency in orientals is approximately 75%, whereas it is less than 5% in most Caucasian populations. ADH1B variations have been associated with protection against alcohol dependence and alcohol-related aerodigestive tract cancer [MIM:103720]